Detalhe da pesquisa
1.
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.
Am J Hum Genet
; 105(3): 573-587, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447096
2.
Sudden Unexpected Death in Infancy [SUDI]: What the clinician, pathologist, coroner and researchers want to know.
Paediatr Respir Rev
; 41: 14-20, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34998675
3.
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Hum Mutat
; 41(8): 1425-1434, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442335
4.
IL-2 Enhances Gut Homing Potential of Human Naive Regulatory T Cells Early in Life.
J Immunol
; 200(12): 3970-3980, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29720424
5.
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Genet Med
; 21(9): 2103-2115, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30967659
6.
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.
Am J Hum Genet
; 96(6): 955-61, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26004201
7.
The investigation of sudden unexpected deaths in infancy in Australia.
Med J Aust
; 218(6): 262-263, 2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36653164
8.
Reduced angiogenic factor expression in intrauterine fetal growth restriction using semiquantitative immunohistochemistry and digital image analysis.
J Obstet Gynaecol Res
; 44(5): 861-872, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29392826
9.
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Hum Mol Genet
; 24(8): 2297-307, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25556185
10.
Severe obstructive biliopathy mimicking biliary atresia in an infant with cystic fibrosis.
J Paediatr Child Health
; 58(2): 343-346, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33818837
11.
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.
Genome Res
; 23(1): 23-33, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23034409
12.
Evaluation of an international educational programme for health care professionals on best practice in the management of a perinatal death: IMproving Perinatal mortality Review and Outcomes Via Education (IMPROVE).
BMC Pregnancy Childbirth
; 16(1): 376, 2016 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-27887578
13.
A Rare Cause of Neonatal Cholestasis Without Liver Dysfunction.
Gastroenterology
; 156(8): e9-e11, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30664873
14.
Placental inflammation is associated with rural and remote residence in the Northern Territory, Australia: a cross-sectional study.
BMC Pregnancy Childbirth
; 15: 32, 2015 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25884543
15.
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.
J Am Soc Nephrol
; 24(3): 377-84, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23274426
16.
A method for developing standardised interactive education for complex clinical guidelines.
BMC Med Educ
; 12: 108, 2012 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23131137
17.
Human cytomegalovirus infection is detected frequently in stillbirths and is associated with fetal thrombotic vasculopathy.
J Infect Dis
; 203(11): 1526-33, 2011 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21592980
18.
Paediatric neurocysticercosis in high income countries.
Eur J Paediatr Neurol
; 39: 88-95, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35724517
19.
Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant.
Eur J Hum Genet
; 30(4): 450-457, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35082396
20.
Great vessel/cardiac extension and tumor embolism in pleuropulmonary blastoma: a report from the International Pleuropulmonary Blastoma Registry.
Pediatr Blood Cancer
; 56(4): 604-9, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21298746